Projects per year
Projects
- 2 Active
-
Hollak C.E.M.: Natural history, pathophysiology and treatment of lysosomal storage disorders
Hollak, C., Biegstraaten, M., Linthorst, G., Arends, M., Guimaraes da Lomba Ferraz, M., Korver, S., Regenboog, M., Schuller, Y., Welling, L. & Zada, A.
1/01/2007 → …
Project: Research
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Wijburg F.A.: inborn errors of metabolism in pediatrics: clinical, pathophysiological and therapeutic studies
van de Beek, M., Bleeker, J., Garrelfs, S., Knottnerus, S., Kuiper, G., Meijer, O., Nijmeijer, S., Welling, L., Wijburg, F. & Bosch, A.
1/06/2006 → …
Project: Research
Research output
- 7 Article
-
The need for additional care in patients with classical galactosaemia
Welling, L., Meester-Delver, A., Derks, T. G., Janssen, M. C. H., Hollak, C. E. M., de Vries, M. & Bosch, A. M., 2019, In: Disability and rehabilitation. 41, 22, p. 2663-2668Research output: Contribution to journal › Article › Academic › peer-review
Open Access4 Citations (Scopus) -
Profiling of intracellular metabolites produced from galactose and its potential for galactosemia research
van Weeghel, M., Welling, L., Treacy, E. P., Wanders, R. J. A., Ferdinandusse, S. & Bosch, A. M., 2018, In: Orphanet Journal of Rare Diseases. 13, 1, 146.Research output: Contribution to journal › Article › Academic › peer-review
Open Access3 Citations (Scopus) -
Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis
van Erven, B., Welling, L., van Calcar, S. C., Doulgeraki, A., Eyskens, F., Gribben, J., Treacy, E. P., Vos, R., Waisbren, S. E., Rubio-Gozalbo, M. E. & Bosch, A. M., 2017, In: JIMD reports. 35, p. 87-96Research output: Contribution to journal › Article › Academic › peer-review
22 Citations (Scopus) -
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up
Welling, L., Bernstein, L. E., Berry, G. T., Burlina, A. B., Eyskens, F., Gautschi, M., Grünewald, S., Gubbels, C. S., Knerr, I., Labrune, P., van der Lee, J. H., MacDonald, A., Murphy, E., Portnoi, P. A., Õunap, K., Potter, N. L., Rubio-Gozalbo, M. E., Spencer, J. B., Timmers, I., Treacy, E. P., & 3 others, 2017, In: Journal of Inherited Metabolic Disease. 40, 2, p. 171-176Research output: Contribution to journal › Article › Academic › peer-review
Open Access129 Citations (Scopus) -
Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes
Welling, L., Boelen, A., Derks, T. G. J., Schielen, P. C. J. I., de Vries, M., Williams, M., Wijburg, F. A. & Bosch, A. M., 2017, In: Molecular Genetics and Metabolism. 120, 3, p. 223-228Research output: Contribution to journal › Article › Academic › peer-review
34 Citations (Scopus)